Results 21 to 30 of about 1,704,122 (259)

Evolutionary and functional features of copy number variation in the cattle genome

Frontiers in Genetics, 2016
Genomic structural variations are an important source of genetic diversity. Copy number variations (CNVs), gains and losses of large regions of genomic sequence between individuals of a species, have been associated with a wide variety of phenotypic ...
Brittney N Keel, Amanda K Lindholm-Perry, Warren M Snelling   +2 more
doaj   +1 more source

Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia

Frontiers in Genetics, 2023
Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel
Elena Panzeri, Andrea Citterio, Andrea Martinuzzi, Vera Ancona, Eleonora Martini, Maria Teresa Bassi   +5 more
doaj   +1 more source

Identification of genomic indels and structural variations using split reads

BMC Genomics, 2011
Background Recent studies have demonstrated the genetic significance of insertions, deletions, and other more complex structural variants (SVs) in the human population.
Urban Alexander E, Abyzov Alex, Lam Hugo, Du Jiang, Zhang Zhengdong D, Snyder Michael, Gerstein Mark   +6 more
doaj   +1 more source

Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia [PDF]

, 2001
Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Bench, AJ, Campbell, LJ, Grace, C, Green, AR, Huntly, BJP, Nacheva, EP, Prince, HM, Reid, AG, Shepherd, P, Szer, J, Telford, N, Turner, P   +11 more
core   +1 more source

Central 22q11.2 deletions

American Journal of Medical Genetics Part A, 2014
22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22‐A and LCR22‐D. Loss of the TBX1 gene is considered the most important cause of the phenotype.
Rump, P., Leeuw, N. de, Essen, A.J. van, Verschuuren-Bemelmans, C.C., Veenstra-Knol, H.E., Swinkels, M.E.M., Oostdijk, W., Ruivenkamp, C., Reardon, W., Munnik, S. de, Ruiter, M., Frumkin, A., Lev, D., Evers, C., Sikkema-Raddatz, B., Dijkhuizen, T., Ravenswaaij-Arts, C.M. van   +16 more
openaire   +4 more sources

Parallel analysis of ribonucleotide-dependent deletions produced by yeast Top1 in vitro and in vivo [PDF]

, 2016
Ribonucleotides are the most abundant non-canonical component of yeast genomic DNA and their persistence is associated with a distinctive mutation signature characterized by deletion of a single repeat unit from a short tandem repeat.
Burgers, Peter M, Cho, Jang-Eun, Huang, Shar-yin N, Jinks-Robertson, Sue, Pommier, Yves, Shuman, Stewart   +5 more
core   +2 more sources

Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes

Frontiers in Genetics, 2022
Preimplantation genetic testing plays a critical role in enabling a balanced translocation carrier to obtain the normal embryo. Identifying the precise breakpoints for the carriers with phenotypic abnormity, allows us to reveal disrupted genes.
Yanan Wang, Zhenhua Zhao, Xinyu Fu, Shufang Li, Qiuyan Zhang, Xiangdong Kong   +5 more
doaj   +1 more source

Parameterized lower bound and NP-completeness of some $H$-free Edge Deletion problems [PDF]

, 2015
For a graph $H$, the $H$-free Edge Deletion problem asks whether there exist at most $k$ edges whose deletion from the input graph $G$ results in a graph without any induced copy of $H$.
C Komusiewicz, DB West, ES El-Mallah, HL Bodlaender, JM Lewis, L Cai, M Cygan, M Yannakakis, MR Fellows, N Bansal, PG Drange, PW Goldberg   +11 more
core   +2 more sources

Genomic analysis of storage protein deficiency in common bean (Phaseolus vulgaris)

Frontiers in Plant Science, 2016
A series of genetically related lines of common bean (Phaseolus vulgaris L.) integrate a progressive deficiency in major storage proteins, the 7S globulin phaseolin and lectins.
Sudhakar ePandurangan, Sudhakar ePandurangan, Marwan eDiapari, Fuqiang eYin, Fuqiang eYin, Seth eMunholland, Gregory E. Perry, Patrick eChapman, Shangzhi eHuang, Francesca eSparvoli, Roberto eBollini, William Leonard Crosby, Karl Peter Pauls, Frédéric eMarsolais, Frédéric eMarsolais   +14 more
doaj   +1 more source

Antecedent-Contained Deletion as Deletion

Linguistics in the Netherlands, 1999
Recent discussion of the phenomenon of Antecedent-Contained Deletion (ACD, illustrated in (1)) continues to assume that the basic problem to be accounted for is one of infinite regress under LF-reconstruction of the antecedent VP (VP1) in the position of the empty VP (VP2) (e.g.
Guido Vanden Wyngaerd, C. Jan-Wouter Zwart   +1 more
openaire   +2 more sources